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Immunodeficiency, common variable, 5(CVID5)

MedGen UID:
462090
Concept ID:
C3150740
Disease or Syndrome
Synonym: ANTIBODY DEFICIENCY DUE TO CD20 DEFECT
 
Gene (location): MS4A1 (11q12.2)
 
Monarch Initiative: MONDO:0013285
OMIM®: 613495

Definition

Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene. [from MONDO]

Clinical features

From HPO
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Antinuclear antibody positivity
MedGen UID:
101792
Concept ID:
C0151480
Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Combined immunodeficiency
MedGen UID:
751396
Concept ID:
C2711630
Disease or Syndrome
A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.
Abnormal T cell count
MedGen UID:
866762
Concept ID:
C4021113
Finding
A deviation from the normal count of T cells.
Abnormal B cell count
MedGen UID:
866853
Concept ID:
C4021208
Finding
A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.
Chronic decreased circulating total IgG
MedGen UID:
1685230
Concept ID:
C5139153
Finding
A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.

Professional guidelines

PubMed

Green PHR, Paski S, Ko CW, Rubio-Tapia A
Gastroenterology 2022 Nov;163(5):1461-1469. Epub 2022 Sep 19 doi: 10.1053/j.gastro.2022.07.086. PMID: 36137844
Otani IM, Lehman HK, Jongco AM, Tsao LR, Azar AE, Tarrant TK, Engel E, Walter JE, Truong TQ, Khan DA, Ballow M, Cunningham-Rundles C, Lu H, Kwan M, Barmettler S
J Allergy Clin Immunol 2022 May;149(5):1525-1560. Epub 2022 Feb 14 doi: 10.1016/j.jaci.2022.01.025. PMID: 35176351
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM
J Allergy Clin Immunol Pract 2017 Jul-Aug;5(4):938-945. Epub 2017 Mar 25 doi: 10.1016/j.jaip.2017.01.021. PMID: 28351785

Recent clinical studies

Etiology

Chen X, Harting J, Farrow E, Thiffault I, Kasperaviciute D; Genomics England Research Consortium, Hoischen A, Gilissen C, Pastinen T, Eberle MA
Am J Hum Genet 2023 Feb 2;110(2):240-250. Epub 2023 Jan 19 doi: 10.1016/j.ajhg.2023.01.001. PMID: 36669496Free PMC Article
Otani IM, Lehman HK, Jongco AM, Tsao LR, Azar AE, Tarrant TK, Engel E, Walter JE, Truong TQ, Khan DA, Ballow M, Cunningham-Rundles C, Lu H, Kwan M, Barmettler S
J Allergy Clin Immunol 2022 May;149(5):1525-1560. Epub 2022 Feb 14 doi: 10.1016/j.jaci.2022.01.025. PMID: 35176351
Patrawala M, Cui Y, Peng L, Fuleihan RL, Garabedian EK, Patel K, Guglani L
J Clin Immunol 2020 Feb;40(2):340-349. Epub 2020 Jan 9 doi: 10.1007/s10875-019-00738-w. PMID: 31919711
Sperlich JM, Grimbacher B, Workman S, Haque T, Seneviratne SL, Burns SO, Reiser V, Vach W, Hurst JR, Lowe DM
J Allergy Clin Immunol Pract 2018 Jan-Feb;6(1):159-168.e3. Epub 2017 Jul 19 doi: 10.1016/j.jaip.2017.05.024. PMID: 28734862Free PMC Article
Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, Espinosa-Rosales FJ, Hammarström L, Nonoyama S, Quinti I, Routes JM, Tang ML, Warnatz K
J Allergy Clin Immunol Pract 2016 Jan-Feb;4(1):38-59. Epub 2015 Nov 7 doi: 10.1016/j.jaip.2015.07.025. PMID: 26563668Free PMC Article

Diagnosis

Chen X, Harting J, Farrow E, Thiffault I, Kasperaviciute D; Genomics England Research Consortium, Hoischen A, Gilissen C, Pastinen T, Eberle MA
Am J Hum Genet 2023 Feb 2;110(2):240-250. Epub 2023 Jan 19 doi: 10.1016/j.ajhg.2023.01.001. PMID: 36669496Free PMC Article
Otani IM, Lehman HK, Jongco AM, Tsao LR, Azar AE, Tarrant TK, Engel E, Walter JE, Truong TQ, Khan DA, Ballow M, Cunningham-Rundles C, Lu H, Kwan M, Barmettler S
J Allergy Clin Immunol 2022 May;149(5):1525-1560. Epub 2022 Feb 14 doi: 10.1016/j.jaci.2022.01.025. PMID: 35176351
Patrawala M, Cui Y, Peng L, Fuleihan RL, Garabedian EK, Patel K, Guglani L
J Clin Immunol 2020 Feb;40(2):340-349. Epub 2020 Jan 9 doi: 10.1007/s10875-019-00738-w. PMID: 31919711
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM
J Allergy Clin Immunol Pract 2017 Jul-Aug;5(4):938-945. Epub 2017 Mar 25 doi: 10.1016/j.jaip.2017.01.021. PMID: 28351785
Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, Espinosa-Rosales FJ, Hammarström L, Nonoyama S, Quinti I, Routes JM, Tang ML, Warnatz K
J Allergy Clin Immunol Pract 2016 Jan-Feb;4(1):38-59. Epub 2015 Nov 7 doi: 10.1016/j.jaip.2015.07.025. PMID: 26563668Free PMC Article

Therapy

Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Ottosson L, Hagbom M, Svernlöv R, Nyström S, Carlsson B, Öman M, Ström M, Svensson L, Nilsdotter-Augustinsson Å, Nordgren J
Viruses 2022 Aug 2;14(8) doi: 10.3390/v14081708. PMID: 36016330Free PMC Article
van de Ven AAJM, Alfaro TM, Robinson A, Baumann U, Bergeron A, Burns SO, Condliffe AM, Fevang B, Gennery AR, Haerynck F, Jacob J, Jolles S, Malphettes M, Meignin V, Milota T, van Montfrans J, Prasse A, Quinti I, Renzoni E, Stolz D, Warnatz K, Hurst JR
Front Immunol 2020;11:606333. Epub 2020 Nov 26 doi: 10.3389/fimmu.2020.606333. PMID: 33324422Free PMC Article
Jolles S, Rojavin MA, Lawo JP, Nelson R Jr, Wasserman RL, Borte M, Tortorici MA, Imai K, Kanegane H
J Clin Immunol 2018 Nov;38(8):864-875. Epub 2018 Nov 10 doi: 10.1007/s10875-018-0560-5. PMID: 30415311Free PMC Article
Sperlich JM, Grimbacher B, Workman S, Haque T, Seneviratne SL, Burns SO, Reiser V, Vach W, Hurst JR, Lowe DM
J Allergy Clin Immunol Pract 2018 Jan-Feb;6(1):159-168.e3. Epub 2017 Jul 19 doi: 10.1016/j.jaip.2017.05.024. PMID: 28734862Free PMC Article

Prognosis

Iyengar A, Kamath N, Radhakrishnan J, Estebanez BT
Semin Nephrol 2023 Sep;43(5):151469. Epub 2024 Jan 19 doi: 10.1016/j.semnephrol.2023.151469. PMID: 38242806
Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Green PHR, Paski S, Ko CW, Rubio-Tapia A
Gastroenterology 2022 Nov;163(5):1461-1469. Epub 2022 Sep 19 doi: 10.1053/j.gastro.2022.07.086. PMID: 36137844
Crotty R, Taylor MS, Farmer JR, Kakar S, Yilmaz F, Ardeniz Ö, Patil DT, Deshpande V
Am J Surg Pathol 2020 May;44(5):617-625. doi: 10.1097/PAS.0000000000001452. PMID: 32187043
Sperlich JM, Grimbacher B, Workman S, Haque T, Seneviratne SL, Burns SO, Reiser V, Vach W, Hurst JR, Lowe DM
J Allergy Clin Immunol Pract 2018 Jan-Feb;6(1):159-168.e3. Epub 2017 Jul 19 doi: 10.1016/j.jaip.2017.05.024. PMID: 28734862Free PMC Article

Clinical prediction guides

Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Ottosson L, Hagbom M, Svernlöv R, Nyström S, Carlsson B, Öman M, Ström M, Svensson L, Nilsdotter-Augustinsson Å, Nordgren J
Viruses 2022 Aug 2;14(8) doi: 10.3390/v14081708. PMID: 36016330Free PMC Article
Makary CA, Behnke J, Peppers B, Ramadan HH
Laryngoscope 2022 Apr;132(4):732-736. Epub 2021 Jun 19 doi: 10.1002/lary.29694. PMID: 34146351
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM
J Allergy Clin Immunol Pract 2017 Jul-Aug;5(4):938-945. Epub 2017 Mar 25 doi: 10.1016/j.jaip.2017.01.021. PMID: 28351785
Tzipori S
Adv Parasitol 1988;27:63-129. doi: 10.1016/s0065-308x(08)60353-x. PMID: 3289331Free PMC Article

Recent systematic reviews

Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Mucke J, Cornet A, Witte T, Schneider M
Clin Exp Rheumatol 2022 May;40 Suppl 134(5):40-45. Epub 2022 Mar 28 doi: 10.55563/clinexprheumatol/bbuvih. PMID: 35349404
Rizvi FS, Zainaldain H, Rafiemanesh H, Jamee M, Hossein-Khannazer N, Hamedifar H, Sabzevari A, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Expert Rev Clin Immunol 2020 Dec;16(12):1227-1235. Epub 2020 Dec 7 doi: 10.1080/1744666X.2021.1850272. PMID: 33203275
Kiaee F, Azizi G, Rafiemanesh H, Zainaldain H, Sadaat Rizvi F, Alizadeh M, Jamee M, Mohammadi S, Habibi S, Sharifi L, Jadidi-Niaragh F, Haghi S, Yazdani R, Abolhassani H, Aghamohammadi A
Expert Rev Clin Immunol 2019 Oct;15(10):1105-1113. Epub 2019 Sep 15 doi: 10.1080/1744666X.2019.1658523. PMID: 31452405
Baeesa SS, Bakhaidar M, Almekhlafi MA, Madani TA
World Neurosurg 2016 Mar;87:220-9. Epub 2015 Nov 23 doi: 10.1016/j.wneu.2015.11.023. PMID: 26615788

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